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SPO11 SPO11 initiator of meiotic double stranded breaks [ Homo sapiens (human) ]

Gene ID: 23626, updated on 7-Jun-2020

Summary

Official Symbol
SPO11provided by HGNC
Official Full Name
SPO11 initiator of meiotic double stranded breaksprovided by HGNC
Primary source
HGNC:HGNC:11250
See related
Ensembl:ENSG00000054796 MIM:605114
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CT35; TOPVIA; SPATA43
Summary
Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 4.0) See more
Orthologs

Genomic context

See SPO11 in Genome Data Viewer
Location:
20q13.31
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (57329757..57343993)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (55904831..55919049)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372687 Neighboring gene microRNA 4325 Neighboring gene ribosomal protein L39 pseudogene 39 Neighboring gene nuclear-encoded mitochondrial tRNA-Leu (TAA) 5-1 Neighboring gene ribonucleic acid export 1 Neighboring gene MT-ND1 pseudogene 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC39953

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA topoisomerase type II (ATP-hydrolyzing) activity IEA
Inferred from Electronic Annotation
more info
 
endodeoxyribonuclease activity, producing 3'-phosphomonoesters IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair involved in meiotic recombination IEA
Inferred from Electronic Annotation
more info
 
female gamete generation TAS
Traceable Author Statement
more info
PubMed 
male meiosis I IEA
Inferred from Electronic Annotation
more info
 
meiotic DNA double-strand break formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic DNA double-strand break processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic telomere clustering IEA
Inferred from Electronic Annotation
more info
 
oogenesis IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
protein localization to chromosome IEA
Inferred from Electronic Annotation
more info
 
reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
synaptonemal complex assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
 
nuclear chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
meiotic recombination protein SPO11
Names
SPO11 meiotic protein covalently bound to DSB homolog
cancer/testis antigen 35
spermatogenesis associated 43
NP_036576.1
NP_937998.1
XP_005260436.1
XP_005260437.1
XP_005260438.1
XP_005260439.1
XP_011527058.1
XP_011527059.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_012444.3NP_036576.1  meiotic recombination protein SPO11 isoform a

    See identical proteins and their annotated locations for NP_036576.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF149310, AF169385, BC033591
    Consensus CDS
    CCDS13456.1
    UniProtKB/Swiss-Prot
    Q9Y5K1
    Related
    ENSP00000360310.3, ENST00000371263.8
    Conserved Domains (4) summary
    cd00223
    Location:218380
    TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
    COG1697
    Location:43391
    Spo11; DNA topoisomerase VI, subunit A [Replication, recombination and repair]
    pfam03533
    Location:244
    SPO11_like; SPO11 homologue
    pfam04406
    Location:107170
    TP6A_N; Type IIB DNA topoisomerase
  2. NM_198265.2NP_937998.1  meiotic recombination protein SPO11 isoform b

    See identical proteins and their annotated locations for NP_937998.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) lacks an internal segment compared to isoform a.
    Source sequence(s)
    AF169385, BC033591
    Consensus CDS
    CCDS13457.1
    UniProtKB/Swiss-Prot
    Q9Y5K1
    Related
    ENSP00000316034.4, ENST00000345868.8
    Conserved Domains (2) summary
    pfam03533
    Location:243
    SPO11_like; SPO11 homolog
    cl27161
    Location:66353
    TP6A_N; Type IIB DNA topoisomerase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    57329757..57343993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260380.3XP_005260437.1  meiotic recombination protein SPO11 isoform X2

    Conserved Domains (4) summary
    cd00223
    Location:216389
    TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
    PRK04342
    Location:42405
    PRK04342; DNA topoisomerase VI subunit A; Provisional
    pfam03533
    Location:244
    SPO11_like; SPO11 homologue
    pfam04406
    Location:107170
    TP6A_N; Type IIB DNA topoisomerase
  2. XM_011528756.2XP_011527058.1  meiotic recombination protein SPO11 isoform X4

    Conserved Domains (3) summary
    cd00223
    Location:180353
    TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
    pfam03533
    Location:243
    SPO11_like; SPO11 homologue
    pfam04406
    Location:69132
    TP6A_N; Type IIB DNA topoisomerase
  3. XM_005260379.3XP_005260436.1  meiotic recombination protein SPO11 isoform X1

    Conserved Domains (4) summary
    cd00223
    Location:218391
    TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
    COG1697
    Location:43402
    Spo11; DNA topoisomerase VI, subunit A [Replication, recombination and repair]
    pfam03533
    Location:244
    SPO11_like; SPO11 homologue
    pfam04406
    Location:107170
    TP6A_N; Type IIB DNA topoisomerase
  4. XM_005260381.3XP_005260438.1  meiotic recombination protein SPO11 isoform X3

    Conserved Domains (4) summary
    cd00223
    Location:216378
    TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
    COG1697
    Location:43389
    Spo11; DNA topoisomerase VI, subunit A [Replication, recombination and repair]
    pfam03533
    Location:244
    SPO11_like; SPO11 homologue
    pfam04406
    Location:107170
    TP6A_N; Type IIB DNA topoisomerase
  5. XM_005260382.4XP_005260439.1  meiotic recombination protein SPO11 isoform X6

    Related
    ENSP00000413185.1, ENST00000418127.5
    Conserved Domains (3) summary
    cd00223
    Location:218305
    TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
    pfam03533
    Location:244
    SPO11_like; SPO11 homologue
    pfam04406
    Location:107170
    TP6A_N; Type IIB DNA topoisomerase
  6. XM_011528757.2XP_011527059.1  meiotic recombination protein SPO11 isoform X5

    Conserved Domains (2) summary
    cd00223
    Location:128301
    TOPRIM_TopoIIB_SPO; TOPRIM_TopoIIB_SPO: topoisomerase-primase (TOPRIM) nucleotidyl transferase/hydrolase domain of the type found in the type IIB family of DNA topoisomerases and Spo11. This subgroup contains proteins similar to Sulfolobus shibatae topoisomerase VI (TopoVI) ...
    pfam04406
    Location:1780
    TP6A_N; Type IIB DNA topoisomerase
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